Canonical Allele Identifier: CA10626580

Gene: ASS1

Linked Data

• ClinVar Variation Id: 365239
• ClinVar RCV Id: RCV000329231
• dbSNP Id: rs886063525
• gnomAD v2: 9-133320102-G-GT
• gnomAD v3: 9-130444715-G-GT
• gnomAD v4: 9-130444715-G-GT
• MyVariant Identifiers: chr9:g.133320102_133320103insT (hg19) ; chr9:g.130444715_130444716insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130444715_130444716insT , CM000671.2:g.130444715_130444716insT	GRCh38
NC_000009.11:g.133320102_133320103insT , CM000671.1:g.133320102_133320103insT	GRCh37
NC_000009.10:g.132309923_132309924insT	NCBI36
NG_011542.1:g.5009_5010insT

Transcript Alleles

HGVS	Amino-acid Change
NM_000050.4:c.-348_-347insT	NP_000041.2:n.-348_-347insT
NM_054012.3:c.-286_-285insT	NP_446464.1:n.-286_-285insT